Clinical and Genetic Characterization of Familial Central Precocious Puberty
Authors' conclusion
We demonstrated a similar prevalence of familial CPP with maternal and paternal transmission. MKRN3 and DLK1 loss-of-function mutations were the major causes of familial CPP with paternal transmission.
Study context
- Population
- Children with a diagnosis of central precocious puberty (CPP); familial CPP selected for clinical and genetic analysis276 familial CPP
- Participants
- 586 children
- Exposure
- Familial CPP with maternal vs paternal transmission
- Outcome
- Prevalence of familial CPP
Methodological detailsmultiethnic cohort, genetic analysis, MKRN3 and DLK1 sequencing in 204 patients (pooled previous studies), Large-scale parallel sequencing in 48 individuals from 34 families
- Multiethnic cohort
- Genetic analysis
- MKRN3 and DLK1 sequencing in 204 patients (pooled previous studies)
- Large-scale parallel sequencing in 48 individuals from 34 families
Main finding
As reported in the abstract
Prevalence of familial CPP
22%
Observational data: associations, not effects.
Further findings
Inheritance in maternal transmission
- Pedigree analyses suggested autosomal dominant inheritance
Clinical and hormonal features and response to GnRH analogs (GnRHa)
- Similar among patients with different forms of transmission
Genetic causes of familial CPP
- MKRN3 loss-of-function mutations (studied families)
- 22%
- DLK1 loss-of-function mutations (studied families)
- 4%
- Both affected exclusively families with paternal transmission
- Rare variants of uncertain significance in families with maternal transmission
Original publication
Clinical and Genetic Characterization of Familial Central Precocious Puberty. J Clin Endocrinol Metab. Published 6 January 2023. doi:10.
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